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Items: 20

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC123477714, LOC123477715
+1267 more
Copy number gain
Neurodevelopmental disorder
GPathogenic
LOC129992145, LOC129992146
+1209 more
Copy number gain
See cases
GPathogenic
ABLIM2, ACOX3
+674 more
Copy number gain
See cases
GPathogenic
LOC129992028, LOC129992029
+691 more
Copy number loss
See cases
GPathogenic
LOC126806993, LOC126806994
+702 more
Copy number gain
See cases
GPathogenic
ABLIM2, ACOX3
+657 more
Copy number loss
See cases
GPathogenic
ABLIM2, ACOX3
+1039 more
Copy number gain
See cases
GPathogenic
LOC129992237, LOC129992238
+861 more
Copy number gain
See cases
GPathogenic
LOC129992157, LOC129992158
+832 more
Copy number loss
See cases
GPathogenic
SOD3, SORCS2
+987 more
Copy number gain
See cases
GPathogenic
ABLIM2, ACOX3
+716 more
Copy number gain
See cases
GPathogenic
ABLIM2, ACOX3
+659 more
Copy number loss
See cases
GPathogenic
LOC129992561, LOC129992562
+1409 more
Copy number gain
Neurodevelopmental disorder
GPathogenic
LOC129992261, LOC129992262
+962 more
Copy number gain
Neurodevelopmental disorder
GPathogenic
ABLIM2, ACOX3
+365 more
Copy number loss
See cases
GPathogenic
ACOX3, BOD1L1
+193 more
Inversion
Dihydropteridine reductase deficiency
GPathogenic
FGFBP1, LOC126806998
+393 more
Copy number loss
4p partial monosomy syndrome
GPathogenic
BST1, C1QTNF7
+98 more
Copy number loss
See cases
GPathogenic
BST1, C1QTNF7
+84 more
Copy number gain
See cases
GPathogenic
FGFBP1, FGFBP2
+18 more
Copy number loss
See cases
GUncertain significance
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